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Genotypes and Phenotypes of DMD Small Mutations in Chinese Patients With Dystrophinopathies

18 Feb 2019

Abstract excerpt

Dystrophinopathies are a group of neuromuscular disorders resulting from mutations in DMD, including Duchenne muscular dystrophy (DMD), intermediate muscular dystrophy (IMD), and Becker muscular dystrophy (BMD). Herein, we present the characteristics of small mutations in Chinese patients with dystrophinopathies, and explore genotype-phenotype correlations. In our cohort, 115 patients with small mutations (18.49%...

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Identifiers

PMID: 30833962
DOI: 10.3389/fgene.2019.00114

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